Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56453600G>A , CM000674.2:g.56453600G>A | GRCh38 |
| NC_000012.11:g.56847384G>A , CM000674.1:g.56847384G>A | GRCh37 |
| NC_000012.10:g.55133651G>A | NCBI36 |
| NG_021397.1:g.6052C>T | |
| NG_021397.2:g.20567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*140C>T | ENSP00000497190.1:n.*140C>T | |
| ENST00000648442.1:n.649C>T | ||
| ENST00000650166.1:n.405C>T | ||
| ENST00000652304.1:c.516C>T MANE Select | ENSP00000498622.1:p.His172= | |
| ENST00000257979.4:c.516C>T | ENSP00000257979.4:p.His172= | |
| ENST00000555551.1:n.472C>T | ||
| NM_012064.3:c.516C>T | NP_036196.1:p.His172= | |
| XM_011538354.1:c.231C>T | XP_011536656.1:p.His77= | |
| NM_012064.4:c.516C>T MANE Select | NP_036196.1:p.His172= | |
| XM_017019306.1:c.159C>T | XP_016874795.1:p.His53= |